WNT10B: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Defects in WNT10B are the cause of split-hand/foot malformation type 6 (SHFM6). SHFM is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. SHFM6 is a autosomal recessive disorder. Belongs to the Wnt family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 12q13
Cellular Component: extracellular space; proteinaceous extracellular matrix; extracellular region
Molecular Function: frizzled binding; receptor agonist activity
Biological Process: positive regulation of apoptosis; skeletal muscle fiber development; Wnt receptor signaling pathway through beta-catenin; negative regulation of transcription from RNA polymerase II promoter; neuron differentiation; positive regulation of cell proliferation; positive regulation of epithelial cell differentiation; chondrocyte differentiation; positive regulation of transcriptional preinitiation complex assembly; G2/M transition of mitotic cell cycle; cell cycle arrest; negative regulation of epithelial cell proliferation; smoothened signaling pathway; cell fate commitment; Wnt receptor signaling pathway; protein stabilization; sensory perception of taste; regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of bone mineralization; negative regulation of fat cell differentiation; positive regulation of osteoblast differentiation; positive regulation of transcription factor activity; regulation of skeletal muscle development; lipid metabolic process; positive regulation of anagen; myoblast cell differentiation involved in skeletal muscle regeneration
Disease: Split-hand/foot Malformation 6
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